Canonical Allele Identifier: CA5496396

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300090
• ClinVar RCV Id: RCV000276506 ; RCV000333763 ; RCV000385877 ; RCV000668822 ; RCV000905618
• dbSNP Id: rs764159237
• ExAC: 10:50732414 A / G
• gnomAD v2: 10-50732414-A-G
• gnomAD v4: 10-49524368-A-G
• MyVariant Identifiers: chr10:g.50732414A>G (hg19) ; chr10:g.49524368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524368A>G , CM000672.2:g.49524368A>G	GRCh38
NC_000010.10:g.50732414A>G , CM000672.1:g.50732414A>G	GRCh37
NC_000010.9:g.50402420A>G	NCBI36
NG_009442.1:g.19734T>C , LRG_465:g.19734T>C
NG_033155.1:g.4914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1062T>C MANE Select	ENSP00000348089.5:p.Pro354=
ENST00000447839.7:c.1062T>C MANE Plus Clinical	ENSP00000387966.2:p.Pro354=
ENST00000679596.1:c.*691T>C	ENSP00000504862.1:n.*691T>C
ENST00000679811.1:n.1145T>C
ENST00000680107.1:c.652+4049T>C	ENSP00000505909.1:n.652+4049T>C
ENST00000680233.1:n.1155T>C
ENST00000681632.1:n.1140T>C
ENST00000681659.1:c.1062T>C	ENSP00000505631.1:p.Pro354=
ENST00000355832.9:c.1062T>C	ENSP00000348089.5:p.Pro354=
ENST00000447839.6:c.1062T>C	ENSP00000387966.2:p.Pro354=
ENST00000515869.1:c.1062T>C	ENSP00000423550.1:p.Pro354=
NM_000124.3:c.1062T>C	NP_000115.1:p.Pro354=
NM_001277058.1:c.1062T>C	NP_001263987.1:p.Pro354=
NM_001277059.1:c.1062T>C	NP_001263988.1:p.Pro354=
NM_001346440.1:c.1062T>C	NP_001333369.1:p.Pro354=
NM_000124.4:c.1062T>C MANE Select	NP_000115.1:p.Pro354=
NM_001277058.2:c.1062T>C MANE Plus Clinical	NP_001263987.1:p.Pro354=
NM_001277059.2:c.1062T>C	NP_001263988.1:p.Pro354=
NM_001346440.2:c.1062T>C	NP_001333369.1:p.Pro354=